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Journal article

Function and genetics of dystrophin and dystrophin-related proteins in muscle.

Abstract:

The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin. There is currently no effective treatment for the disease; however, the complex molecular pathology of this disorder is now being unravelled. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. Mutations in many components of the dystrophin protein complex cause other forms of autosomally i...

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Publication status:
Published

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Publisher copy:
10.1152/physrev.00028.2001

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Pharmacology
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
Journal:
Physiological reviews
Volume:
82
Issue:
2
Pages:
291-329
Publication date:
2002-04-05
DOI:
EISSN:
1522-1210
ISSN:
0031-9333
URN:
uuid:5b2d5034-dc02-487a-bc37-47cf818ff65a
Source identifiers:
106269
Local pid:
pubs:106269

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